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2012

  1. Bagheri-Fam S, Sreenivasan R, Bernard P, Knower KC, Sekido R, Lovell-Badge R, Just W, Harley VR. Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens Chromosome Res. 20:191-9
  2. Borck G, Kakar N, Hoch J, Friedrich K, Freudenberg J, Nürnberg G, Yilmaz R, Daud S, Baloch DM, Nürnberg P, Oldenburg J, Ahmad J, Kubisch C. (2012) An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group Hum Genet. 131:209-16
  3. Borck G, Rainshtein L, Hellman-Aharony S, Volk AE, Friedrich K, Taub E, Magal N, Kanaan M, Kubisch C, Shohat M, Basel-Vanagaite L. (2012) High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. Clin Genet. [Epub ahead of print]
  4. Eggers C, Volk AE, Kahraman D, Fink GR, Leube B, Schmidt M, Timmermann L. (2012) Are dopa-responsive dystonia and Parkinson's disease related disorders? A case report. Parkinsonism Relat Disord. [Epub ahead of print]
  5. Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiß-Nachtsheim M, Reutter H. (2012) A phenotype map for 14q32.3 terminal deletions. Am J Med Genet A 158A:695-706
  6. Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T. (2012) BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families. Clin Genet. [Epub ahead of print]
  7. Galliani E, Burglen L, Kadlub N, Just W, Sznajer Y, Billette de Villemeur T, Soupre V, Picard A, Vazquez MP. (2012) Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports Cleft Palate Craniofac J [Epub ahead of print]
  8. Geistlinger J, Du W, Groll J, Liu F, Hoegel J, Foehr KJ, Pasquarelli A, Schneider EM. (2012) P2RX7 genotype association in severe sepsis identified by a novel Multi-Individual Array for rapid screening and replication of risk SNPs. Clin Chim Acta. 413:39-47
  9. Hisama FM, Kubisch C, Martin GM, Oshima J. (2012) Clinical utility gene card for: Werner syndrome. Eur J Hum Genet. 20(5)
  10. Jin G, Lu L, Cooney KA, Ray AM, Zuhlke KA, Lange EM, Cannon-Albright LA, Camp NJ, Teerlink CC, Fitzgerald LM, Stanford JL, Wiley KE, Isaacs SD, Walsh PC, Foulkes WD, Giles GG, Hopper JL, Severi G, Eeles R, Easton D, Kote-Jarai Z, Guy M, Rinckleb A, Maier C, Vogel W, Cancel-Tassin G, Egrot C, Cussenot O, Thibodeau SN, McDonnell SK, Schaid DJ, Wiklund F, Grönberg H, Emanuelsson M, Whittemore AS, Oakley-Girvan I, Hsieh CL, Wahlfors T, Tammela T, Schleutker J, Catalona WJ, Zheng SL, Ostrander EA, Isaacs WB, Xu J; International Consortium for Prostate Cancer Genetics. (2012) Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG). Hum Genet. [Epub ahead of print]
  11. Kluwe L, Nguyen R, Vogt J, Bengesser K, Mussotter T, Friedrich RE, Jett K, Kehrer-Sawatzki H, Mautner VF. (2012) Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions. Genes Chromosomes Cancer. 51:447-51.
  12. Knoch J, Kamenisch Y, Kubisch C, Berneburg M. (2012) Rare hereditary diseases with defects in DNA-repair. Eur J Dermatol. [Epub ahead of print]
  13. Kuehner S, Schlaier M, Schwarz K, Speit G. (2012) Analysis of Leukemia-Specific Aneuploidies in Cultured Myeloid Progenitor Cells in the Absence and Presence of Formaldehyde Exposure. Toxicol Sci. [Epub ahead of print]
  14. Lebedeva E, Stingl JC, Thal DR, Ghebremedhin E, Strauss J, Ozer E, Bertram L, Einem BV, Tumani H, Otto M, Riepe MW, Högel J, Ludolph AC, Arnim CA. (2012) Genetic variants in PSEN2 and correlation to CSF β-amyloid42 levels in AD Neurobiol Aging 33:201.e9-201.e18
  15. Lill CM, Schjeide BM, Akkad DA, Blaschke P, Winkelmann A, Gerdes LA, Hoffjan S, Luessi F, Dörner T, Li SC, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen JT, Zettl UK, Bertram L, Zipp F. (2012) Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample. Neurogenetics. 13:83-6
  16. Linta L, Stockmann MC, Kleinhans KN, Boeckers A, Storch A, Zaehres H, Lin Q, Barbi G, Boeckers TM, Kleger A, Liebau S. (2012) Rat embryonic fibroblasts improve reprogramming of human keratinocytes into induced pluripotent stem cells Stem Cells Dev. 21:965-76
  17. Lu L, Cancel-Tassin G, Valeri A, Cussenot O, Lange EM, Cooney KA, Farnham JM, Camp NJ, Cannon-Albright LA, Tammela TL, Schleutker J, Hoegel J, Herkommer K, Maier C, Vogel W, Wiklund F, Emanuelsson M, Grönberg H, Wiley KE, Isaacs SD, Walsh PC, Helfand BT, Kan D, Catalona WJ, Stanford JL, Fitzgerald LM, Johanneson B, Deutsch K, McIntosh L, Ostrander EA, Thibodeau SN, McDonnell SK, Hebbring S, Schaid DJ, Whittemore AS, Oakley-Girvan I, Hsieh CL, Powell I, Bailey-Wilson JE, Cropp CD, Simpson C, Carpten JD, Seminara D, Zheng SL, Xu J, Giles GG, Severi G, Hopper JL, English DR, Foulkes WD, Maehle L, Moller P, Badzioch MD, Edwards S, Guy M, Eeles R, Easton D, Isaacs WB, International Consortium for Prostate Cancer Genetics. (2012) Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG Prostate 72:410-26
  18. Reiter R, Brosch S, Lüdeke M, Fischbein E, Haase S, Pickhard A, Assum G, Schwandt A, Vogel W, Högel J, Maier C. (2012) Genetic and environmental risk factors for submucous cleft palate. Eur J Oral Sci. 120:97-103.
  19. Speit G, Ladeira C, Linsenmeyer R, Schütz P, Högel J. (2012) Re-evaluation of a reported increased micronucleus frequency in lymphocytes of workers occupationally exposed to formaldehyde. Mutat Res. 744:161-6
  20. Roehl AC, Mussotter T, Cooper DN, Kluwe L, Wimmer K, Högel J, Zetzmann M, Vogt J, Mautner VF, Kehrer-Sawatzki H. (2012) Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del((+/-)) stem cells. Hum Mutat. 33:541-50
  21. Tantawy S, Lin L, Akkurt I, Borck G, Klingmueller D, Hauffa BP, Krude H, Biebermann H, Achermann J, Koehler B. (2012) Testosterone production during puberty in two 46,XY DSD patients with novel NR5A1 (SF-1) mutations Eur J Endocrinol. [Epub ahead of print]
  22. Zeller J, Högel J, Linsenmeyer R, Teller C, Speit G. (2012) Investigations of potential susceptibility toward formaldehyde-induced genotoxicity. Arch Toxicol. [Epub ahead of print]
  23. Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC, Wimmer K, Mautner VF, Kluwe L, Upadhyaya M, Pasmant E, Chuzhanova N, Kestler HA, Högel J, Legius E, Claes K, Cooper DN, Kehrer-Sawatzki H. (2012) Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. Hum Mutat. 33:372-83
  24. Zobor D, Kaufmann DH, Weckerle P, Sauer A, Wissinger B, Wilhelm H, Kohl S (2012) Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1 Ophthalmic Genet. 33:34-8
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